I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.
Anne Slavotinek, PhD, MBBS

About

Biography

As a geneticist, I see various conditions and patients of all ages. Genetic conditions are common, although some are individually rare. I'm interested in discovering the cause of rare diseases, including congenital disabilities or anomalies that affect how one grows and develops. The idea is that knowledge about the cause of genetic conditions will one day lead to treatments.

My work in the clinic allows me to evaluate and treat patients. After clinic, I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.

I became interested in genetics after attending a division seminar for the first time. The talk featured the discovery of a new gene and a novel mechanism for causing disease. I found it incredibly interesting but never dreamed of working in medical genetics as a doctor. However, I was working in an institute that focused on genetics research. One day, while looking for jobs, I saw a position advertised for clinical training in medical genetics. "That's it!" I remember thinking to myself. "That's what I want to do.” I was fortunate enough to get that job and start my career in a growing field of medical care that many find uniquely rewarding.

I'm co-editor of the American Journal of Medical Genetics, a journal focused on medical genetics. I'm also a past Chair of the American Board of Medical Genetics and Genomics.

When I’m not working, I like to be outdoors. Growing up in Australia taught me to love nature.

MBBS: University of Adelaide, South Australia, 1987

PhD: Flinders University, South Australia, 1995

Residency: National Human Genome Research Institute, National Institutes of Health

Interests

Medical genetics; dysmorphology

Services and Specialties

Interests

Developmental eye defects; genomics; multiple congenital anomaly syndromes

Research Areas

Insurance Information

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Publications

Perceptions of professional Spanish medical interpretation during genomic sequencing results sessions. Gutierrez, AM; Leo, MC; Joseph, G; Guerra, C; Ackerman, SL; Anguiano, B; Majumder, MA; Ramos, MA; Recinos, AM; Sahin-Hodoglugil, N; Slavotinek, A; Robinson, JO. Patient Education and Counseling. 2026; 150:109736.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET. Shi, Y; Silva, A; Debuy, C; Ghosh, S; Mcconkey, H; Schot, R; Deng, R; Nikoncuk, A; Van Slegtenhorst, M; Hoefsloot, LH; Kleefstra, T; Lanko, K; Sadikovic, B; Barakat, TS. Genetics in Medicine. 2026; 102637.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients. Bergès, C; Sauvestre, C; Naudion, S; Delorme, CV; Smol, T; Rama, M; Moortgat, S; Maystadt, I; Kersseboom, R; Wilke, M; Efthymiou, S; Houlden, H; Legendre, M; Michaud, V. Clinical Genetics. 2026.

Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort. Chen, A; Avadhani, U; Ngo, K; Corona, RI; Neto, GDVC; Figueroa, KP; Perlman, S; Pulst, SM; Nelson, SF; Wong, D; Fogel, BL. Movement Disorders. 2026.

Familial p.(Ala73Thr) Variant in GNB2 Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma. Glassford, M; Jennings, C; Slavotinek, A. Clinical Case Reports. 2026; 14(6):e72913.

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved. Beale, HC; Tse, V; Lee, JY; Akutagawa, J; Mavura, Y; Saint-John, B; Cheney, A; Mulligan, DR; Chacaltana, G; Gutierrez, M; Devine, P; Saba, JD; Vaske, OM; Slavotinek, A. Human Genetics. 2026; 145(1).

Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results. Swanson, K; Hodoglugil, U; Sparks, TN; Lianoglou, BR; Slavotinek, AM; Norton, ME. Prenatal Diagnosis. 2026; 46(5-6):924-932.

A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry. Jo, S; Lee, C; White, L; Shillington, A; Slavotinek, A; Wu, Y. Clinical Genetics. 2026; 109(5):926-930.

Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review. Buasri, K; Theobald, K; Pant, DC; Verma, S; Jackson, F; Lopes, J; Brewer, CJ; Dawson, B; Taylor, SE; Slavotinek, A. BMC Neurology. 2026; 26(1).

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery. Theobald, K; Shillington, A; Jackson, F; Lopes, J; Brewer, CJ; Dawson, B; Wu, G; Denton, J; Pauciulo, M; Zhang, X; Slavotinek, A. Clinical Genetics. 2026; 109(4):717-724.

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